Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4594
Gene name Gene Name - the full gene name approved by the HGNC.	Methylmalonyl-CoA mutase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MMUT
Synonyms (NCBI Gene) Gene synonyms aliases	MCM, MUT
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p12.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme ma

Show/Hide all(165)

SNP ID	Visualize variation	Clinical significance	Consequence
rs12175488	C>A,G,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs115923556	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121918248	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs121918249	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121918250	G>T	Pathogenic	Missense variant, coding sequence variant
rs121918251	C>T	Pathogenic	Missense variant, coding sequence variant
rs121918252	C>A	Pathogenic	Missense variant, coding sequence variant
rs121918253	C>A	Pathogenic	Stop gained, coding sequence variant
rs121918254	C>G,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121918255	C>G	Pathogenic	Missense variant, coding sequence variant
rs121918256	T>A	Pathogenic	Missense variant, coding sequence variant
rs121918257	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918258	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs140600746	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs143023066	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs145682249	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147715336	C>T	Pathogenic	Coding sequence variant, missense variant
rs148091558	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs148285323	C>A,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs150642856	G>A	Uncertain-significance, likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs190834116	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs200019422	C>A	Pathogenic	Splice donor variant
rs200055428	A>C	Pathogenic	Coding sequence variant, missense variant
rs200596762	G>A	Pathogenic	Coding sequence variant, stop gained
rs200908035	T>A,C	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs368790885	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs372486357	T>C	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs398123276	T>C	Pathogenic	Splice acceptor variant
rs398123277	AGA>-	Uncertain-significance, pathogenic	Inframe deletion, coding sequence variant
rs398123278	G>A	Pathogenic	Coding sequence variant, stop gained
rs483352778	C>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs533755473	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs535411418	C>A	Pathogenic	Missense variant, coding sequence variant
rs547709692	G>A	Likely-benign, pathogenic	Coding sequence variant, missense variant
rs564069299	C>T	Pathogenic	Missense variant, coding sequence variant
rs727504020	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs727504022	C>T	Pathogenic	Missense variant, coding sequence variant
rs746085723	A>T	Pathogenic	Splice donor variant
rs746274670	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs747777227	->T	Pathogenic	Stop gained, coding sequence variant
rs747897332	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs750619189	A>G	Conflicting-interpretations-of-pathogenicity	Splice donor variant
rs752898811	->T	Pathogenic	Coding sequence variant, frameshift variant
rs753288303	C>T	Pathogenic	Coding sequence variant, missense variant
rs753564352	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs754369323	C>G,T	Pathogenic	Splice acceptor variant
rs757000253	T>A	Pathogenic	Missense variant, coding sequence variant
rs758008398	->ATAAATTC	Pathogenic	Coding sequence variant, frameshift variant
rs758577372	C>T	Pathogenic	Missense variant, coding sequence variant
rs760782399	G>T	Pathogenic	Missense variant, coding sequence variant
rs761477436	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs761525156	G>A	Pathogenic	Coding sequence variant, stop gained
rs761773115	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs764173488	A>T	Pathogenic	Coding sequence variant, stop gained
rs765284825	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs765373403	AGA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs767593892	G>A	Pathogenic	Coding sequence variant, missense variant
rs768608311	C>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs769348060	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs770466993	G>C,T	Pathogenic	Coding sequence variant, stop gained
rs771021560	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs771542321	C>-	Pathogenic	Splice donor variant, coding sequence variant
rs772552898	G>A	Pathogenic	Coding sequence variant, missense variant
rs772888575	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs774159791	G>A	Pathogenic	Stop gained, coding sequence variant
rs775593146	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs776176938	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs777031588	T>C	Pathogenic, uncertain-significance	Intron variant
rs777758903	G>A	Pathogenic	Missense variant, coding sequence variant
rs778702777	C>T	Pathogenic	Missense variant, coding sequence variant
rs779990936	G>A	Pathogenic	Stop gained, coding sequence variant
rs780068818	G>A	Pathogenic	Stop gained, coding sequence variant
rs780283588	->AA	Pathogenic	Frameshift variant, coding sequence variant
rs780387525	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs781474200	T>C	Pathogenic	Missense variant, coding sequence variant
rs796052002	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs796052004	T>C	Pathogenic	Missense variant, coding sequence variant
rs796052005	T>C	Pathogenic	Missense variant, coding sequence variant
rs796052006	A>T	Pathogenic	Splice donor variant
rs796052007	A>G	Pathogenic	Missense variant, coding sequence variant
rs796052008	CC>TA	Pathogenic	Stop gained, coding sequence variant
rs796052009	->CCT	Likely-pathogenic	Coding sequence variant, inframe insertion
rs863224898	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs864309733	A>G	Pathogenic	Coding sequence variant, missense variant
rs864309734	C>A	Pathogenic	Coding sequence variant, missense variant
rs864309735	T>C	Pathogenic	Coding sequence variant, missense variant
rs864309736	A>T	Pathogenic	Coding sequence variant, missense variant
rs864309737	T>C	Pathogenic	Coding sequence variant, missense variant
rs864309738	A>G	Pathogenic	Coding sequence variant, missense variant
rs864309739	A>C	Pathogenic	Coding sequence variant, missense variant
rs869320653	T>C	Pathogenic	Coding sequence variant, missense variant
rs879253820	A>G	Pathogenic	Missense variant, initiator codon variant
rs879253821	->T	Pathogenic	Frameshift variant, coding sequence variant
rs879253822	C>T	Pathogenic	Splice acceptor variant
rs879253823	->C	Pathogenic	Frameshift variant, coding sequence variant
rs879253824	G>A	Pathogenic	Stop gained, coding sequence variant
rs879253825	C>T	Pathogenic	Stop gained, coding sequence variant
rs879253826	A>C,G	Likely-benign, pathogenic	Stop gained, synonymous variant, coding sequence variant
rs879253827	G>T	Pathogenic	Coding sequence variant, missense variant
rs879253828	C>T	Pathogenic	Coding sequence variant, missense variant
rs879253829	C>T	Pathogenic	Coding sequence variant, missense variant
rs879253830	G>C	Pathogenic	Coding sequence variant, missense variant
rs879253831	TCT>-	Pathogenic	Inframe deletion, coding sequence variant
rs879253832	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs879253833	G>C	Pathogenic	Coding sequence variant, missense variant
rs879253834	G>A,C	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs879253835	C>T	Pathogenic	Coding sequence variant, missense variant
rs879253836	C>T	Pathogenic	Stop gained, coding sequence variant
rs879253837	C>T	Pathogenic	Coding sequence variant, missense variant
rs879253838	C>G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs879253839	T>C	Pathogenic-likely-pathogenic	Splice acceptor variant
rs879253840	A>T	Pathogenic	Coding sequence variant, missense variant
rs879253841	->A	Pathogenic	Frameshift variant, coding sequence variant
rs879253842	G>A	Pathogenic	Coding sequence variant, missense variant
rs879253843	ACATTAACAAAA>-	Pathogenic	Intron variant
rs879253844	C>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs879253845	G>A	Pathogenic	Coding sequence variant, missense variant
rs879253846	A>G	Pathogenic	Coding sequence variant, missense variant
rs879253847	T>C	Pathogenic	Coding sequence variant, missense variant
rs879253848	G>A	Pathogenic	Stop gained, coding sequence variant
rs879253849	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs879253850	->GCAG	Pathogenic	Frameshift variant, coding sequence variant
rs879253851	CGGC>TTCCA	Pathogenic	Frameshift variant, coding sequence variant
rs879253852	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041957	->TCCA	Pathogenic	Frameshift variant, coding sequence variant
rs886042128	A>C,G,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, missense variant
rs887126161	G>A	Pathogenic	Stop gained, coding sequence variant
rs941483851	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs965316043	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1026703654	A>C,T	Pathogenic	Coding sequence variant, missense variant
rs1028877309	C>T	Likely-pathogenic	Splice donor variant
rs1064793768	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1064796328	A>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1085307929	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1085308002	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1164271240	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1192889987	A>G,T	Likely-pathogenic	Splice donor variant
rs1227030642	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1238694184	G>A	Pathogenic	Stop gained, coding sequence variant
rs1313120333	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1346775255	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1405705785	T>A,C	Likely-pathogenic	Splice acceptor variant
rs1437477079	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1446389693	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1460509686	C>T	Likely-pathogenic	Intron variant
rs1467385866	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1476515561	TGCAGTACGGACAATATTATTGT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554158325	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554158372	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554158377	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554158379	T>C	Pathogenic	Splice acceptor variant
rs1554158754	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554159942	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1554159950	GC>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1554160198	C>T	Likely-pathogenic	Splice donor variant
rs1554160246	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1554160638	C>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1554160743	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554160919	->A	Pathogenic	Coding sequence variant, stop gained
rs1554161054	T>A	Pathogenic	Coding sequence variant, stop gained
rs1561952122	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1561959114	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1581815342	G>C	Pathogenic	Intron variant
rs1581832011	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1581834906	C>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0003924	Function	GTPase activity	IDA	20876572
GO:0004494	Function	Methylmalonyl-CoA mutase activity	IBA
GO:0004494	Function	Methylmalonyl-CoA mutase activity	IDA	24458, 1978672, 2453061, 21138732, 28943303
GO:0004494	Function	Methylmalonyl-CoA mutase activity	IEA
GO:0004494	Function	Methylmalonyl-CoA mutase activity	IMP	27167370, 28101778
GO:0005515	Function	Protein binding	IPI	20876572, 21138732, 28497574, 28943303, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	28943303
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	28943303
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	2567699
GO:0005759	Component	Mitochondrial matrix	IDA	24458
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006790	Process	Sulfur compound metabolic process	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016866	Function	Intramolecular transferase activity	IEA
GO:0019678	Process	Propionate metabolic process, methylmalonyl pathway	IBA
GO:0031419	Function	Cobalamin binding	IBA
GO:0031419	Function	Cobalamin binding	IDA	1978672, 20876572, 21138732, 28943303
GO:0031419	Function	Cobalamin binding	IEA
GO:0042802	Function	Identical protein binding	IDA	20876572
GO:0042802	Function	Identical protein binding	IPI	20876572
GO:0042803	Function	Protein homodimerization activity	IDA	20876572
GO:0043547	Process	Positive regulation of GTPase activity	IDA	20876572, 28497574
GO:0044281	Process	Small molecule metabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050667	Process	Homocysteine metabolic process	IDA	20031578
GO:0072341	Function	Modified amino acid binding	IDA	20031578
GO:1901290	Process	Succinyl-CoA biosynthetic process	IEA

MIM	HGNC	e!Ensembl
609058	7526	ENSG00000146085

Protein

UniProt ID

P22033

Protein name

Methylmalonyl-CoA mutase, mitochondrial (MCM) (EC 5.4.99.2) (Methylmalonyl-CoA isomerase)

Protein function

Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermedia

PDB

2XIJ , 2XIQ , 3BIC , 8DYJ , 8DYL , 8GJU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01642	MM_CoA_mutase	62 → 574	Methylmalonyl-CoA mutase	Family
PF02310	B12-binding	615 → 733	B12 binding domain	Domain

Sequence

MLRAKNQLFLLSPHYLRQVKESSGSRLIQQRLLHQQQPLHPEWAALAKKQLKGKNPEDLI
WHTPEGISIKPLYSKRDTMDLPEELPGVKPFTRGPYPTMYTFRPWTIRQYAGFSTVEESN
KFYKDNIKAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMAGVAIDTVEDTKILFDGIPLE
KMSVSMTMNGAVIPVLANFIVTGEEQGVPKEKLTGTIQNDILKEFMVRNTYIFPPEPSMK
IIADIFEYTAKHMPKFNSISISGYHMQEAGADAILELAYTLADGLEYSRTGLQAGLTIDE
FAPRLSFFWGIGMNFYMEIAKMRAGRRLWAHLIEKMFQPKNSKSLLLRAHCQTSGWSLTE
QDPYNNIVRTAIEAMAAVFGGTQSLHTNSFDEALGLPTVKSARIARNTQIIIQEESGIPK
VADPWGGSYMMECLTNDVYDAALKLINEIEEMGGMAKAVAEGIPKLRIEECAARRQARID
SGSEVIVGVNKYQLEKEDAVEVLAIDNTSVRNRQIEKLKKIKSSRDQALAERCLAALTEC
AASGDGNILALAVDASRARCTVGEITDALKKVFGEHKANDRMVSGAYRQEFGESKEITSA
IKRVHKFMEREGRRPRLLVAKMGQDGHDRGAKVIATGFADLGFDVDIGPLFQTPREVAQQ
AVDADVHAVGISTLAAGHKTLVPELIKELNSLGRPDILVMCGGVIPPQDYEFLFEVGVSN
VFGPGTRIPKAAVQVLDDIEKCLEKKQQSV

Sequence length

750

Interactions

View interactions

	KEGG		Reactome
	Valine, leucine and isoleucine degradation Glyoxylate and dicarboxylate metabolism Propanoate metabolism Metabolic pathways Carbon metabolism Cobalamin transport and metabolism		Cobalamin (Cbl, vitamin B12) transport and metabolism Defective MMAA causes methylmalonic aciduria type cblA Defective MUT causes methylmalonic aciduria mut type Propionyl-CoA catabolism

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Methylmalonic Aciduria	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, methylmalonic aciduria, mut(0) type, Methylmalonic acidemia, methylmalonic aciduria, mut(-) type	rs1554160198, rs727504022, rs148285323, rs121918250, rs879253826, rs864309736, rs1064796328, rs879253850, rs761525156, rs147715336, rs796052002, rs1554158325, rs121918254, rs1581819081, rs770466993 View all (132 more)	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Liver failure	acute infantile liver failure due to synthesis defect of mtdna-encoded proteins	N/A	N/A	ClinVar
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Breast Neoplasms	Stimulate	37052042
Carcinoma Pancreatic Ductal	Associate	26063742
Colonic Neoplasms	Associate	26063742
Dimauro disease	Inhibit	1970180
Dimauro disease	Associate	1970180
Genetic Diseases Inborn	Associate	1970180
Genetic Diseases Inborn	Inhibit	32068834
Hypersensitivity Delayed	Associate	40243530
Hypoproteinemia	Associate	36275653
Inflammation	Associate	39596217
Lethargy	Associate	40243530
Metabolism Inborn Errors	Associate	38168585
Methylmalonic acidemia	Associate	1670635, 1671869, 17966092, 1968706, 1970180, 19955418, 21471, 21604717, 23479330, 25299208, 29265583, 29996803, 31056463, 31449969, 32013889 View all (9 more)
Methylmalonic acidemia	Inhibit	26420839, 30428564
Methylmalonic aciduria cblA type	Associate	10882753
Methylmalonic aciduria cblB type	Associate	34796408
Methylmalonic Aciduria due to Methylmalonyl CoA Mutase Deficiency	Associate	1346616, 1670635, 1968706, 31466887, 35660814, 7912889
Neoplasms	Associate	37052042
Neoplasms Squamous Cell	Associate	24114512
Neuroblastoma	Associate	30428564
Neurologic Manifestations	Associate	31466887
Optic Atrophy Hereditary Leber	Associate	37989876
Organizing Pneumonia	Associate	32013889
Osteosarcoma	Associate	27314445
Propionic Acidemia	Associate	17966092, 31449969
Tuberculosis Pulmonary	Associate	36275653

MMUT (methylmalonyl-CoA mutase)